Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.

Abstract

This Consensus Statement covers recommendations for the diagnosis and management of patients with pseudohypoparathyroidism (PHP) and related disorders, which comprise metabolic disorders characterized by physical findings that variably include short bones, short stature, a stocky build, early-onset obesity and ectopic ossifications, as well as endocrine defects that often include resistance to parathyroid hormone (PTH) and TSH. The presentation and severity of PHP and its related disorders vary between affected individuals with considerable clinical and molecular overlap between the different types. A specific diagnosis is often delayed owing to lack of recognition of the syndrome and associated features. The participants in this Consensus Statement agreed that the diagnosis of PHP should be based on major criteria, including resistance to PTH, ectopic ossifications, brachydactyly and early-onset obesity. The clinical and laboratory diagnosis should be confirmed by a molecular genetic analysis. Patients should be screened at diagnosis and during follow-up for specific features, such as PTH resistance, TSH resistance, growth hormone deficiency, hypogonadism, skeletal deformities, oral health, weight gain, glucose intolerance or type 2 diabetes mellitus, and hypertension, as well as subcutaneous and/or deeper ectopic ossifications and neurocognitive impairment. Overall, a coordinated and multidisciplinary approach from infancy through adulthood, including a transition programme, should help us to improve the care of patients affected by these disorders.

• Authors: Giovanna Mantovani, Murat Bastepe, David Monk, Luisa de Sanctis, Susanne Thiele, Alessia Usardi, S Faisal Ahmed, Roberto Bufo, Timothée Choplin, Gianpaolo De Filippo, Guillemette Devernois, Thomas Eggermann, Francesca M Elli, Kathleen Freson, Aurora García Ramirez, Emily L Germain-Lee, Lionel Groussin, Neveen Hamdy, Patrick Hanna, Olaf Hiort, Harald Jüppner, Peter Kamenický, Nina Knight, Marie-Laure Kottler, Elvire Le Norcy, Beatriz Lecumberri, Michael A Levine, Outi Mäkitie, Regina Martin, Gabriel Ángel Martos-Moreno, Masanori Minagawa, Philip Murray, Arrate Pereda, Robert Pignolo, Lars Rejnmark, Rebecca Rodado, Anya Rothenbuhler, Vrinda Saraff, Ashley H Shoemaker, Eileen M Shore, Caroline Silve, Serap Turan, Philip Woods, M Carola Zillikens, Guiomar Perez de Nanclares, Agnès Linglart
• Journal: Nature reviews. Endocrinology (Nat Rev Endocrinol) Vol. 14 Issue 8 Pg. 476-500 (08 2018) ISSN: 1759-5037 [Electronic] England
• PMID: 29959430 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)

Chemical References

• Parathyroid Hormone

Topics

• Consensus
• Delayed Diagnosis (adverse effects)
• Drug Resistance
• Female
• Genetic Predisposition to Disease
• Humans
• Infant, Newborn
• Male
• Neonatal Screening (organization & administration)
• Parathyroid Hormone (therapeutic use)
• Practice Guidelines as Topic
• Prognosis
• Program Development
• Pseudohypoparathyroidism (diagnosis, genetics, therapy)
• Risk Assessment